Last Posted: Aug 27, 2020
- Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome.
Banerjee Indraneel et al. Wellcome open research 2019 4149
- Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism.
Hashemian Somayyeh et al. International journal of endocrinology 2020 20207250406
- Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld Elizabeth et al. American journal of medical genetics. Part C, Seminars in medical genetics 2019 181(4) 682-692
- Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389.
Yau Daphne et al. PloS one 2020 15(2) e0228417
- Diagnostic Genetic Testing for Monogenic Diabetes and Congenital Hyperinsulinemia.
Houghton Jayne A L et al. Methods in molecular biology (Clifton, N.J.) 2020 2076129-177
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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